ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24262145 2014
dbSNP: rs145588689
rs145588689
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		C 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122892
rs398122892
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122892
rs398122892
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122893
rs398122893
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122893
rs398122893
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122894
rs398122894
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122894
rs398122894
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		G 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122895
rs398122895
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		A 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122895
rs398122895
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122896
rs398122896
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122896
rs398122896
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		A 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122897
rs398122897
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122897
rs398122897
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		G 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. 15955093 2005
dbSNP: rs145588689
rs145588689
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		C 0.800 CausalMutation CLINVAR
dbSNP: rs145588689
rs145588689
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT
dbSNP: rs28936680
rs28936680
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28936680
rs28936680
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation UNIPROT
dbSNP: rs28936681
rs28936681
Entrez Id: 103;1141
Gene Symbol: ADAR;CHRNB2
ADAR;CHRNB2
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28936681
rs28936681
Entrez Id: 103;1141
Gene Symbol: ADAR;CHRNB2
ADAR;CHRNB2
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation UNIPROT
dbSNP: rs398122892
rs398122892
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR